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Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 70, doi. 10.1002/mdc3.12873
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- Publication type:
- Article
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01073-7
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- Publication type:
- Article
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family.
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- JAMA Dermatology, 2015, v. 151, n. 8, p. 920, doi. 10.1001/jamaneurol.2015.0979
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- Publication type:
- Article
Heritability of Different Forms of Memory in the Late Onset Alzheimer's Disease Family Study.
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- Journal of Alzheimer's Disease, 2011, v. 23, n. 2, p. 249, doi. 10.3233/JAD-2010-101515
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- Publication type:
- Article
Heritability of different forms of memory in the Late Onset Alzheimer's Disease Family Study.
- Published in:
- 2011
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- Publication type:
- journal article
Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series.
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- 2006
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- Publication type:
- journal article
Lewy body pathology in late-onset familial Alzheimer's disease: A clinicopathological case series.
- Published in:
- Journal of Alzheimer's Disease, 2006, v. 9, n. 3, p. 235, doi. 10.3233/JAD-2006-9302
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- Publication type:
- Article
Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive impairment.
- Published in:
- 2005
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- Publication type:
- journal article
C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.551780
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- Publication type:
- Article
Lack of evidence for an association between UCHL1 S18Y and Parkinson’s disease.
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- European Journal of Neurology, 2008, v. 15, n. 2, p. 134, doi. 10.1111/j.1468-1331.2007.02012.x
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- Publication type:
- Article
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2368, doi. 10.1093/brain/awae014
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- Publication type:
- Article
Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
- Published in:
- 2023
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- Publication type:
- journal article
PSEN2 poison exon inclusion is common across brain regions in late‐onset Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.073966
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- Publication type:
- Article
Effect of disease‐associated variants in TREM2 on splicing and gene dosage.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.077444
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- Publication type:
- Article
Effect of disease‐associated variants in TREM2 on splicing and gene dosage.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.077444
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- Publication type:
- Article
P4‐233: AGED ALZHEIMER'S DISEASE BRAINS EXHIBIT NUMEROUS Aβ BUT ONLY FEW TAU PRIONS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1531, doi. 10.1016/j.jalz.2018.07.054
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- Publication type:
- Article
P3‐162: IPSC‐DERIVED CORTICAL NEURONS WITH A NOVEL FRAMESHIFT PSEN2 MUTATION INCREASE THE RATIO OF AGGREGATE PRONE AMYLOID BETA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1130, doi. 10.1016/j.jalz.2018.06.1520
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- Publication type:
- Article
Incidence of cognitively defined late-onset Alzheimer's dementia subgroups from a prospective cohort study.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, n. 12, p. 1307, doi. 10.1016/j.jalz.2017.04.011
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- Publication type:
- Article
Comment.
- Published in:
- 2006
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- Publication type:
- Letter
Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 12, p. 1, doi. 10.1371/journal.pgen.1008526
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- Publication type:
- Article
Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra.
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- Cerebellum, 2018, v. 17, n. 2, p. 143, doi. 10.1007/s12311-017-0882-5
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- Publication type:
- Article
Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. 70, doi. 10.1002/ajmg.b.32443
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- Publication type:
- Article
Genetic factors in neurodegenerative diseases.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. 3, doi. 10.1002/ajmg.b.32504
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- Publication type:
- Article
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. 113, doi. 10.1002/ajmg.b.32510
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- Publication type:
- Article
Cover Image, Volume 174B, Number 1, January 2017.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. i, doi. 10.1002/ajmg.b.32517
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- Publication type:
- Article
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 7, p. 925, doi. 10.1002/ajmg.b.32452
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- Publication type:
- Article
Genome Scan in Familial Late-Onset Alzheimer's Disease: A Locus on Chromosome 6 Contributes to Age-at-Onset.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 2, p. 201, doi. 10.1002/ajmg.b.32133
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- Publication type:
- Article
Abnormal Function of Endocrine Pancreas and Anterior Pituitary in Friedreich's Ataxia.
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- Annals of Internal Medicine, 1978, v. 88, n. 4, p. 478, doi. 10.7326/0003-4819-88-4-478
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- Publication type:
- Article
Novel pregnancy-triggered episodes of CAPOS syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 235, doi. 10.1002/ajmg.a.38502
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- Publication type:
- Article
Untitled.
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- Review Americana: A Literary Journal, 2022, v. 17, n. 1, p. N.PAG
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- Publication type:
- Article
PSYCHOMETRICALLY-DEFINED LATE-ONSET ALZHEIMER’S DISEASE (LOAD) SUBGROUPS IN 5 STUDIES (TOTAL N = 4,170): PREVALENCE AT FIRST VISIT, ASSOCIATIONS WITH APOE GENOTYPE AND IGAP SNPS, AND GWAS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1488, doi. 10.1016/j.jalz.2017.07.570
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- Publication type:
- Article
Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, n. 1, p. 2, doi. 10.1016/j.jalz.2015.05.020
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- Publication type:
- Article
MAPT haplotypes modify the association between head injury and risk of Alzheimer’s disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P361, doi. 10.1016/j.jalz.2015.06.256
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- Publication type:
- Article
TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ɛ3/ɛ3.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2013, v. 9, n. 5, p. 554, doi. 10.1016/j.jalz.2012.06.009
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- Publication type:
- Article
Four siblings with variable clinical and pathological characteristics of Alzheimer's and Lewy body disease
- Published in:
- 2010
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- Publication type:
- Abstract
Phenotypes and genotypes in presenilin 2 (PSEN2) mutations
- Published in:
- 2009
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- Publication type:
- Abstract
TDP-43 deposition in presenilin mutation-associated Alzheimer's, sporadic Alzheimer's, and non-demented elderly
- Published in:
- 2009
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- Publication type:
- Abstract
Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2008, v. 4, n. 6, p. 406, doi. 10.1016/j.jalz.2008.04.007
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- Publication type:
- Article
P3-272: Genome scan for age-at-onset loci in the National Institutes of Mental Health Alzheimer's disease sample
- Published in:
- 2008
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- Publication type:
- Abstract
P4-200: The psychological impact of susceptibility versus deterministic genetic testing for Alzheimer’s disease
- Published in:
- 2006
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- Publication type:
- Abstract
P4-200: The psychological impact of susceptibility versus deterministic genetic testing for Alzheimer’s disease
- Published in:
- 2006
- By:
- Publication type:
- Abstract
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
- Published in:
- Nature Genetics, 2011, v. 43, n. 5, p. 436, doi. 10.1038/ng.801
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- Publication type:
- Article
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1044, doi. 10.1038/ng1649
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- Publication type:
- Article
Reply?
- Published in:
- Nature Genetics, 2000, v. 24, n. 3, p. 215
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- Publication type:
- Article
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13).
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017811
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- Publication type:
- Article
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
- Published in:
- 2018
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- Publication type:
- journal article
Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 4, p. 593, doi. 10.1002/mus.23976
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- Publication type:
- Article
Longitudinal features of STIR bright signal in FSHD.
- Published in:
- 2014
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- Publication type:
- journal article
Longitudinal features of stir bright signal in FSHD<sup>1</sup>.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 2, p. 257, doi. 10.1002/mus.23911
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- Publication type:
- Article
The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 4, p. 500, doi. 10.1002/mus.22342
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- Publication type:
- Article